view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DHRS12_chr13_51762993_51809163 | 51775692 | TCTCCTAC others(33): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG02145.hp2 NA18906.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0078 a0002c0002t0003g0233 a0002c0002t0003g0238 |
3 | 283 | 0.0106 | -40 | c.363 others(57): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRS9_chr2_169064563_169101167 | 169079975 | GAGAGAGA others(33): Show |
G | intron_variant | MODIFIER | HG02132.hp1 HG02155.hp1 HG03831.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 a0001c0002t0002g0009 a0001c0002t0002g0011 others(1): Show |
6 | 375 | 0.0160 | -40 | c.-59 others(57): Show |
DHRS9 | ENSG00000073737.17 | transcript | ENST00000674881.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2265160 | CCAGCAGA others(33): Show |
C | intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 36 | 0.0278 | -40 | c.596 others(57): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 5/6 | chrX | TogoVar | |||||||
DHX15_chr4_24522475_24589554 | 24547877 | CTCTCTCT others(33): Show |
C | intron_variant | MODIFIER | NA18971.hp2 NA19002.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0199 a0001c0002t0001g0206 |
2 | 349 | 0.0057 | -40 | c.124 others(57): Show |
DHX15 | ENSG00000109606.13 | transcript | ENST00000336812.5 | protein_coding | 6/13 | chr4 | TogoVar | |||||||
DHX37_chr12_124941826_124994131 | 124961182 | GCGCACGC others(33): Show |
G | intron_variant | MODIFIER | HG01361.hp1 NA19030.hp1 |
a0001a0002 | a0001c0051a0002c0035 | a0001c0051t0003a0002c0035t0001 | a0001c0051t0003g0017 a0002c0035t0001g0314 |
2 | 346 | 0.0058 | -40 | c.204 others(57): Show |
DHX37 | ENSG00000150990.9 | transcript | ENST00000308736.7 | protein_coding | 15/26 | chr12 | TogoVar | |||||||
DIP2A_chr21_46453891_46575015 | 46495210 | TTCTCTTC others(33): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02559.hp1 HG02630.hp1 others(3): Show |
a0001a0002 | a0001c0005a0002c0011a0002c0019 | a0001c0005t0004a0001c0005t0021a0002c0011t0004others(1): Show | a0001c0005t0004g0284 a0001c0005t0004g0287 a0001c0005t0021g0285 others(3): Show |
6 | 371 | 0.0162 | -40 | c.284 others(57): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50579642 | AAAATATA others(33): Show |
A | intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0281 | 1 | 264 | 0.0038 | -40 | c.101 others(59): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50579644 | AATATATA others(33): Show |
A | intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0098 | 1 | 205 | 0.0049 | -40 | c.101 others(59): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIPK1C_chr18_74429775_74462308 | 74460396 | TAATGCAA others(33): Show |
T | upstream_gene_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 482 | 0.0021 | -40 | c.-31 others(51): Show |
DIPK1C | ENSG00000187773.9 | transcript | ENST00000343998.8 | protein_coding | 3089 | chr18 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38081980 | AGGCTCCT others(33): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0022 | a0022c0035 | a0022c0035t0001 | a0022c0035t0001g0139 | 1 | 298 | 0.0034 | -40 | c.117 others(59): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 6/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38087426 | TAGCACTG others(33): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0162 | 1 | 298 | 0.0034 | -40 | c.157 others(57): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 9/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DLG2_chr11_83450173_85632344 | 83753826 | TATATATA others(33): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01099.hp2 HG01884.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0008 a0001c0001t0004g0005 a0001c0001t0005g0011 others(2): Show |
5 | 9 | 0.5556 | -40 | c.182 others(61): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 18/27 | chr11 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3833130 | ATTCCTTC others(33): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG02451.hp2 HG02717.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0022a0001c0001t0042a0001c0002t0014others(4): Show | a0001c0001t0022g0043 a0001c0001t0042g0080 a0001c0002t0014g0064 others(4): Show |
7 | 8 | 0.8750 | -40 | c.958 others(59): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 751039 | AAAGGAGC others(33): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0027 | 1 | 38 | 0.0263 | -40 | c.18+ others(57): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1562455 | CGGGACTG others(33): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01891.hp1 |
a0001 | a0001c0003a0001c0010 | a0001c0003t0024a0001c0010t0025 | a0001c0003t0024g0003 a0001c0010t0025g0012 |
2 | 38 | 0.0526 | -40 | c.123 others(59): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1562467 | TTGTTGGG others(33): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02647.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0001a0001c0003t0006others(1): Show | a0001c0002t0002g0022 a0001c0003t0001g0026 a0001c0003t0001g0027 others(2): Show |
5 | 37 | 0.1351 | -40 | c.123 others(59): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP4_chr20_36301339_36533633 | 36380593 | AAGAGAGA others(33): Show |
A | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0018 a0003c0004t0002g0019 |
2 | 10 | 0.2000 | -40 | c.-73 others(59): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32042150 | CATACATA others(33): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG01069.hp1 HG01167.hp1 others(18): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0002c0005others(14): Show | a0001c0001t0001a0001c0002t0002a0002c0005t0001others(15): Show | a0001c0001t0001g0069 a0001c0002t0002g0052 a0002c0005t0001g0017 others(18): Show |
21 | 125 | 0.1680 | -40 | c.643 others(61): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33190863 | TTATATAT others(33): Show |
T | intron_variant | MODIFIER | HG03139.hp1 | a0005 | a0005c0043 | a0005c0043t0014 | a0005c0043t0014g0118 | 1 | 124 | 0.0081 | -40 | c.31+ others(57): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | |||||||
DMRT1_chr9_836697_974090 | 861590 | CGGGGTGG others(33): Show |
C | intron_variant | MODIFIER | HG02976.hp1 HG03139.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0002c0002t0003 | a0001c0001t0007g0255 a0002c0002t0003g0254 |
2 | 282 | 0.0071 | -40 | c.538 others(59): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55154913 | CGGGGCCT others(33): Show |
C | downstream_gene_variant | MODIFIER | NA19043.hp2 NA20129.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0088 a0002c0003t0001g0089 |
2 | 396 | 0.0051 | -40 | c.*41 others(51): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 3751 | chr19 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123851164 | GTGTGGCT others(33): Show |
G | intron_variant | MODIFIER | HG01255.hp2 | a0034 | a0034c0048 | a0034c0048t0002 | a0034c0048t0002g0100 | 1 | 168 | 0.0060 | -40 | c.629 others(57): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 35/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123851180 | CGGGACCT others(33): Show |
C | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0066 | a0001c0066t0001 | a0001c0066t0001g0132 | 1 | 166 | 0.0060 | -40 | c.629 others(57): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 35/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123851197 | CAGCTCCA others(33): Show |
C | intron_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0089 | a0002c0089t0001 | a0002c0089t0001g0085 | 1 | 165 | 0.0061 | -40 | c.629 others(57): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 35/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123851250 | CTCTTCCA others(33): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG03209.hp1 |
a0015 | a0015c0021 | a0015c0021t0001 | a0015c0021t0001g0166 a0015c0021t0001g0167 |
2 | 168 | 0.0119 | -40 | c.629 others(57): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 35/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225335405 | GTGTGTGT others(33): Show |
G | intron_variant | MODIFIER | HG00140.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0143 | 1 | 231 | 0.0043 | -40 | c.100 others(61): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78465495 | TCCCGGCC others(33): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(160): Show |
a0001a0002a0003others(78): Show | a0001c0001a0001c0002a0001c0008others(142): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(144): Show | a0001c0001t0001g0058 a0001c0001t0001g0159 a0001c0001t0001g0178 others(160): Show |
163 | 250 | 0.6520 | -40 | c.894 others(59): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 56/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78465699 | GCCCCGTC others(33): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02896.hp1 HG02922.hp1 |
a0072a0087a0088 | a0072c0216a0087c0015a0088c0210 | a0072c0216t0001a0087c0015t0002a0088c0210t0001 | a0072c0216t0001g0124 a0087c0015t0002g0077 a0088c0210t0001g0118 |
3 | 250 | 0.0120 | -40 | c.894 others(57): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 56/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78540867 | ATGGGTGG others(33): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp1 HG00738.hp1 others(19): Show |
a0001a0002a0003others(12): Show | a0001c0114a0001c0138a0002c0094others(19): Show | a0001c0114t0001a0001c0138t0001a0002c0094t0001others(19): Show | a0001c0114t0001g0154 a0001c0138t0001g0226 a0002c0094t0001g0173 others(19): Show |
22 | 248 | 0.0887 | -40 | c.253 others(58): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78540909 | GGGTGGGT others(33): Show |
G | intron_variant | MODIFIER | HG03688.hp2 | a0116 | a0116c0042 | a0116c0042t0001 | a0116c0042t0001g0166 | 1 | 228 | 0.0044 | -40 | c.253 others(59): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 17/80 | chr17 | TogoVar | |||||||
DNAH2_chr17_7712744_7838742 | 7765175 | TCATGAGA others(33): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02080.hp1 HG02109.hp2 others(1): Show |
a0004a0026a0045 | a0004c0008a0026c0030a0045c0074 | a0004c0008t0003a0026c0030t0003a0045c0074t0004 | a0004c0008t0003g0293 a0026c0030t0003g0302 a0026c0030t0003g0305 others(1): Show |
4 | 263 | 0.0152 | -40 | c.333 others(57): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 20/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7765215 | GCATGAGA others(33): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00733.hp1 others(46): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(22): Show | a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0247 others(46): Show |
49 | 292 | 0.1678 | -40 | c.333 others(55): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 20/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7765295 | TCATGAGA others(33): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG02135.hp1 HG02723.hp1 others(2): Show |
a0002a0003a0017others(2): Show | a0002c0015a0003c0123a0017c0042others(2): Show | a0002c0015t0003a0003c0123t0009a0017c0042t0009others(2): Show | a0002c0015t0003g0298 a0003c0123t0009g0143 a0017c0042t0009g0142 others(2): Show |
5 | 283 | 0.0177 | -40 | c.333 others(55): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 20/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21056383 | TCCCTCCC others(33): Show |
T | intron_variant | MODIFIER | HG01496.hp1 NA18906.hp2 |
a0002a0025 | a0002c0089a0025c0090 | a0002c0089t0001a0025c0090t0001 | a0002c0089t0001g0146 a0025c0090t0001g0147 |
2 | 232 | 0.0086 | -40 | c.378 others(59): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 27/61 | chr16 | TogoVar | |||||||
DNAH7_chr2_195732703_196073837 | 196017496 | AATAGAGT others(33): Show |
A | intron_variant | MODIFIER | HG03704.hp1 | a0019 | a0019c0024 | a0019c0024t0003 | a0019c0024t0003g0048 | 1 | 254 | 0.0039 | -40 | c.869 others(57): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 9/64 | chr2 | TogoVar | |||||||
DNAH7_chr2_195732703_196073837 | 196069550 | CCAGGCAA others(33): Show |
C | upstream_gene_variant | MODIFIER | HG02896.hp1 | a0006 | a0006c0007 | a0006c0007t0006 | a0006c0007t0006g0256 | 1 | 254 | 0.0039 | -40 | c.-87 others(49): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 714 | chr2 | TogoVar | |||||||
DNAH8_chr6_38710311_39035792 | 38925286 | ATTATTTT others(33): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01361.hp2 HG02647.hp2 others(1): Show |
a0036a0041a0054others(1): Show | a0036c0082a0041c0095a0054c0076others(1): Show | a0036c0082t0001a0041c0095t0003a0054c0076t0001others(1): Show | a0036c0082t0001g0226 a0041c0095t0003g0014 a0054c0076t0001g0265 others(1): Show |
4 | 18 | 0.2222 | -40 | c.109 others(59): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 73/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11698152 | TTATTAAT others(33): Show |
T | intron_variant | MODIFIER | HG02970.hp1 HG03130.hp2 NA18906.hp1 others(1): Show |
a0016a0075a0078 | a0016c0011a0075c0145a0078c0085 | a0016c0011t0001a0075c0145t0001a0078c0085t0001 | a0016c0011t0001g0073 a0016c0011t0001g0121 a0075c0145t0001g0013 others(1): Show |
4 | 176 | 0.0227 | -40 | c.487 others(59): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 22/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAI2_chr17_74269234_74319884 | 74301870 | GGAAGGAA others(33): Show |
G | intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 319 | 0.0031 | -40 | c.987 others(55): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAI2_chr17_74269234_74319884 | 74301926 | GGAAGGAA others(33): Show |
G | intron_variant | MODIFIER | HG03704.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0080 | 1 | 393 | 0.0025 | -40 | c.987 others(55): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAI2_chr17_74269234_74319884 | 74301986 | GGAAGGAA others(33): Show |
G | intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 396 | 0.0025 | -40 | c.987 others(55): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAI2_chr17_74269234_74319884 | 74302030 | GGAAGGAA others(33): Show |
G | intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 396 | 0.0025 | -40 | c.987 others(55): Show |
DNAI2 | ENSG00000171595.14 | transcript | ENST00000311014.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAI4_chr1_66807885_66929856 | 66836204 | GAAAGAGA others(33): Show |
G | intron_variant | MODIFIER | NA18980.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0186 | 1 | 241 | 0.0041 | -40 | c.158 others(57): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 10/16 | chr1 | TogoVar | |||||||
DNAJB12_chr10_72327863_72359919 | 72356829 | GATATATA others(33): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00438.hp2 others(86): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(39): Show |
89 | 97 | 0.9175 | -40 | c.-19 others(51): Show |
DNAJB12 | ENSG00000148719.16 | transcript | ENST00000444643.8 | protein_coding | 1911 | chr10 | TogoVar | |||||||
DNAJB13_chr11_73946026_73975281 | 73962430 | CGGATGGC others(33): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02622.hp1 HG02622.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0180 others(6): Show |
9 | 434 | 0.0207 | -40 | c.335 others(57): Show |
DNAJB13 | ENSG00000187726.9 | transcript | ENST00000339764.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DNAJC12_chr10_67791669_67843188 | 67819675 | AAAGAAAG others(33): Show |
A | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 375 | 0.0027 | -40 | c.157 others(57): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
DNAJC12_chr10_67791669_67843188 | 67819679 | AAAGAAAG others(33): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG02071.hp1 NA19083.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0250 |
3 | 370 | 0.0081 | -40 | c.157 others(57): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
DNAJC12_chr10_67791669_67843188 | 67819687 | AAAGAAAG others(33): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG02040.hp1 HG03098.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0267 a0001c0001t0002g0360 a0001c0001t0003g0003 others(16): Show |
19 | 295 | 0.0644 | -40 | c.157 others(57): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
DNAJC12_chr10_67791669_67843188 | 67819691 | AAAGAAAG others(33): Show |
A | intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056 | 1 | 331 | 0.0030 | -40 | c.157 others(57): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
DNAJC12_chr10_67791669_67843188 | 67826591 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp2 others(72): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0003a0001c0001t0007a0005c0004t0003 | a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 others(66): Show |
75 | 382 | 0.1963 | -40 | c.79- others(55): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 1/4 | chr10 | TogoVar |